Gaucher Disease provides valuable information for academic and industry scientists, and clinicians.

Features:

• Presents not just the most current treatment modalities of this genetic disorder, but the direction of new research in the field
• Touches on all aspects of the disease including biochemical pathology, diagnosis, treatment, patient management, and ethics
• Serves as the only fully comprehensive volume on the disease and the first update on technological advances since 1997
• Contains contributions from world-renowned experts with chapters written by patient organizations, pharmaceutical companies, physicians, public health leaders, and ethicists

Contents

1. Gaucher Disease: Molecular Biology and Genotype-Phenotype Correlations
2. Cell Biology and Biochemistry of Acid b-Glucosidase: The Gaucher Disease Enzyme
3. Saposin C and Other Sphingolipid Activator Proteins, S. Locatelli Hoops
4. The X-Ray Structure of Human Acid-b-Glucosidase: Implications for Second-Generation Enzyme replacement therapy
5. Cellular Pathology in Gaucher Disease
6. The Biochemistry and Cellular Biology of Sphingolipids and Glucosylceramide
7. The Development of Enzyme replacement therapy for Lysosomal Diseases: Gaucher Disease and Beyond
8. Gaucher Disease Animal Models
9. Type 1 Gaucher Disease - Clinical Features
10. Neuronopathic Gaucher Disease
11. Pathologic Anatomy of Gaucher Disease
12. Neuropathological Aspects of Gaucher Disease
13. Diagnosis and Laboratory Features
14. Imaging in Gaucher Disease, Focused on Bone Pathology
15. Radionuclide Evaluation of Gaucher Disease
16. Epidemiology and Screening Policy
17. Enzyme replacement therapy for Type I Gaucher Disease
18. Substrate Reduction Therapy
19. Pharmacologic Chaperone Therapy for Lysosomal Diseases
20. The Significance of the Blood-Brain Barrier for Gaucher Disease and Other Lysosomal Storage Diseases
21. Hematopoietic Stem Cell Transplantation, Stem Cells, and Gene Therapy
22. Ethical Concerns in Treating Rare Diseases with Expensive Therapy
23. Societal Aspects in Treating Rare Diseases with Expensive Therapy
24. Gaucher Disease as a Model for an Orphan Disease: Medical Aspects
25. Meeting the Needs of Patients with Gaucher Disease: Pioneering a Sustainable Model for Ultra-Orphan Diseases
26. Patients' Perspective
27. Societal Perspective: Comment
28. Gaucher Associations Around the World

Index

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